Linked Data
ClinVar Variation Id:
437889
ClinVar RCV Id:
RCV000504579
dbSNP Id:
rs1553163562
PubMed:
PMID:27162350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64178248G>C , CM000663.2:g.64178248G>C | GRCh38 |
| NC_000001.10:g.64643931G>C , CM000663.1:g.64643931G>C | GRCh37 |
| NC_000001.9:g.64416519G>C | NCBI36 |
| NG_032801.1:g.409231G>C | |
| NG_032801.2:g.409230G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371079.6:c.2207G>C MANE Select | ENSP00000360120.1:p.Arg736Thr | |
| ENST00000371079.5:c.2207G>C | ENSP00000360120.1:p.Arg736Thr | |
| ENST00000545203.2:c.2042G>C | ENSP00000441637.2:p.Arg681Thr | |
| NM_005012.3:c.2207G>C | NP_005003.2:p.Arg736Thr | |
| XM_011541526.1:c.2018G>C | XP_011539828.1:p.Arg673Thr | |
| XM_017001376.1:c.2147G>C | XP_016856865.1:p.Arg716Thr | |
| XM_017001377.1:c.2018G>C | XP_016856866.1:p.Arg673Thr | |
| NM_005012.4:c.2207G>C MANE Select | NP_005003.2:p.Arg736Thr |